Utility of Whole-Body Magnetic Resonance Imaging Surveillance in Children and Adults With Cancer Predisposition Syndromes: A Retrospective Study

PURPOSE Surveillance improves patient outcomes by diagnosing cancer at an early and curable stage for individuals with cancer predisposition syndromes (CPS). Whole-body magnetic resonance imaging (WB-MRI) provides head-to-thigh imaging in one sitting without radiation exposure and is recommended for individuals with increased risk of multisite tumors or cancers. In this study, we evaluated the diagnostic performance of WB-MRI as a screening tool for Li-Fraumeni syndrome (LFS), constitutional mismatch repair deficiency syndrome, hereditary paraganglioma-pheochromocytoma syndrome (HPGL-PCC), and other CPS. METHODS A retrospective review of patients with CPS seen at the Cancer Genetics Service, National Cancer Center Singapore was conducted. Patients who underwent WB-MRI screening from 2014 to 2024 were identified to determine the sensitivity and specificity of WB-MRI in early cancer detection. RESULTS Of the 103 patients with CPS recommended for WB-MRI surveillance, 59 underwent the procedure (57% uptake rate). Among them, 34 (57%) were female and the median age was 32 years (range, 1-74 years). The CPS distributions included 22 (37%) with LFS, 14 (24%) with neurofibromatosis type 1, eight (14%) with Von Hippel Lindau syndrome, and eight (14%) with HPGL-PCC. WB-MRI screening led to a diagnosis of cancer in seven (12%) patients (renal cell carcinoma, prostate adenocarcinoma, osteosarcoma, neuroendocrine tumor); of these, four (57%) received curative treatment. Twelve (20%) patients required additional investigations, with eight (14%) having benign findings. The sensitivity and specificity of WB-MRI in our cohort were 64% and 92%, respectively, with a false-positive rate (FPR) of 8% and a false-negative rate of 36%. CONCLUSION WB-MRI is an effective screening tool in patients with specific CPS, demonstrating a high specificity and low FPR.